Full data view for gene SCN4A

Information The variants shown are described using the NM_000334.4 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HOKPP - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Paternal (confirmed) - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Maternal (confirmed) - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Schoser [2007] - - Germline - - - 0 - DNA SEQ - - ? - Schoser [2007] The myotonia becomes more severe with aging - - - - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Wang [1995] - - Germline - - - 0 - DNA SEQ - - ? - Wang [1995] - - - - - - 0 - - 1 Vincent Janmaat
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